Harper Gray

Supravalvular Aortic Stenosis, also known as supravalvar aortic stenosis, is related to aortic valve disease 2 and aortic valve insufficiency. An important gene associated with Supravalvular Aortic Stenosis is ELN (Elastin), and among its related pathways/superpathways are Extracellular matrix organization and 7q11.23 copy number variation ...

Anosmia, Isolated Congenital, also known as isolated congenital anosmia, is related to anosmia, isolated congenital, x-linked and marsili syndrome. An important gene associated with Anosmia, Isolated Congenital is CNGA2 (Cyclic Nucleotide Gated Channel Subunit Alpha 2). Affiliated tissues include olfactory bulb, brain and cortex, and related ...

Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, type 1 and lipodystrophy, familial partial, type 6, and has symptoms including myalgia An important gene associated with Familial Partial Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways ...

Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 5, antenatal, transient and bartter syndrome, type 4b, neonatal, with sensorineural deafness. An important gene associated with Bartter Disease is BSND (Barttin CLCNK Type Accessory Subunit Beta), and among its related pathways/superpathways are Transport ...

Isobutyryl-Coa Dehydrogenase Deficiency, also known as ibd deficiency, is related to acyl-coa dehydrogenase, short-chain, deficiency of and dilated cardiomyopathy. An important gene associated with Isobutyryl-Coa Dehydrogenase Deficiency is ACAD8 (Acyl-CoA Dehydrogenase Family Member 8). Affiliated tissues include heart, and related ...